A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2724698



Internal ID10308334
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:49712940..49713769hg38UCSC Ensembl
Outerchr22:50106588..50107417hg19UCSC Ensembl
Cytoband22q13.33
Allele length
AssemblyAllele length
hg38830
hg19830
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6788973, essv6703703, essv6797292, essv6972126, essv6921574, essv6925548, essv6682703, essv6696869, essv6941613, essv6828862, essv6675022, essv6801485, essv6913849, essv6783343, essv6784817, essv6905982
SamplesSSM008, SSM071, SSM039, SSM013, SSM028, SSM018, SSM069, SSM017, SSM031, SSM033, SSM068, SSM072, SSM015, SSM080, SSM037, SSM022
Known Genes
MethodSequencing
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)esv2724698
Frequency
Sample Size96
Observed Gain0
Observed Loss16
Observed Complex0
Frequencyn/a


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